ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.*111A>G

gnomAD frequency: 0.50750  dbSNP: rs1051251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000299321 SCV000355958 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001689977 SCV001907999 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689977 SCV005264457 likely benign not provided criteria provided, single submitter not provided

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